Linked Data
ClinVar Variation Id:
90814
ClinVar RCV Id:
RCV000076316
dbSNP Id:
rs587779114
MyVariant Identifiers:
chr2:g.47702301dupA (hg19)
chr2:g.47702300_47702301insA (hg19)
chr2:g.47475162dupA (hg38)
chr2:g.47475161_47475162insA (hg38)
PubMed:
PMID:16142001
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.47475162dup , CM000664.2:g.47475162dup | GRCh38 |
| NC_000002.11:g.47702301dup , CM000664.1:g.47702301dup | GRCh37 |
| NC_000002.10:g.47555805dup | NCBI36 |
| NG_007110.2:g.77039dup , LRG_218:g.77039dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000644900.2:c.1897dup | ENSP00000495641.2:p.Ile633AsnfsTer11 | |
| ENST00000233146.7:c.1897dup MANE Select | ENSP00000233146.2:p.Ile633AsnfsTer11 | |
| ENST00000543555.6:c.1699dup | ENSP00000442697.1:p.Ile567AsnfsTer11 | |
| ENST00000644092.1:c.*197dup | ENSP00000496351.1:n.*197dup | |
| ENST00000645339.1:c.1897dup | ENSP00000496441.1:p.Ile633AsnfsTer11 | |
| ENST00000645506.1:c.1897dup | ENSP00000495455.1:p.Ile633AsnfsTer11 | |
| ENST00000646415.1:c.1897dup | ENSP00000495543.1:p.Ile633AsnfsTer11 | |
| ENST00000233146.6:c.1897dup | ENSP00000233146.2:p.Ile633AsnfsTer11 | |
| ENST00000406134.5:c.1897dup | ENSP00000384199.1:p.Ile633AsnfsTer11 | |
| ENST00000543555.5:c.1699dup | ENSP00000442697.1:p.Ile567AsnfsTer11 | |
| ENST00000610696.4:c.*293dup | ENSP00000483159.1:n.*293dup | |
| ENST00000613514.4:c.*437dup | ENSP00000484137.1:n.*437dup | |
| ENST00000617333.3:c.*663dup | ENSP00000482468.1:n.*663dup | |
| ENST00000617938.4:c.*869dup | ENSP00000481158.1:n.*869dup | |
| ENST00000621359.2:c.1897dup | ENSP00000481416.1:p.Ile633AsnfsTer11 | |
| NM_000251.2:c.1897dup , LRG_218t1:c.1897dup | NP_000242.1:p.Ile633AsnfsTer11 | |
| NM_001258281.1:c.1699dup | NP_001245210.1:p.Ile567AsnfsTer11 | |
| XM_005264332.2:c.1897dup | XP_005264389.2:p.Ile633AsnfsTer11 | |
| XM_011532867.1:c.1897dup | XP_011531169.1:p.Ile633AsnfsTer11 | |
| XR_939685.1:n.1969dup | ||
| XM_005264332.4:c.1897dup | XP_005264389.2:p.Ile633AsnfsTer11 | |
| XM_011532867.2:c.1897dup | XP_011531169.1:p.Ile633AsnfsTer11 | |
| XR_001738747.2:n.1959dup | ||
| XR_939685.2:n.1959dup | ||
| NM_000251.3:c.1897dup MANE Select | NP_000242.1:p.Ile633AsnfsTer11 |